Description
This panel is used for clinical indication 'R139 Laterality disorders and isomerism' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R139 Laterality disorders and isomerism'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/549/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (02/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

4 reviewers

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

59 Entities

59 reviewed, 27 green

List Entity Reviews Mode of inheritance Details
59 Entitiess
Green Green List (high evidence)
ARMC4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 23, 615451
Tags
Green Green List (high evidence)
C11orf70
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 38, 618063
Tags
  • new-gene-name
Green Green List (high evidence)
C21orf59
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 26, 615500
Tags
  • new-gene-name
Green Green List (high evidence)
CCDC103
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 17, 614679
Tags
Green Green List (high evidence)
CCDC114
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 20, 615067
Tags
Green Green List (high evidence)
CCDC151
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 30, 616037
Tags
Green Green List (high evidence)
CCDC39
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 14, 613807
Tags
Green Green List (high evidence)
CCDC40
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 15, 613808
Tags
Green Green List (high evidence)
CFAP53
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 6, autosomal recessive, 614779
Tags
Green Green List (high evidence)
DNAAF1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 13, 613193
Tags
Green Green List (high evidence)
DNAAF3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 2, 606763
Tags
Green Green List (high evidence)
DNAAF4
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 25, 615482
Tags
Green Green List (high evidence)
DNAAF5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 18, 614874
Tags
Green Green List (high evidence)
DNAH11
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
Tags
Green Green List (high evidence)
DNAH5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
Tags
Green Green List (high evidence)
DNAH9
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Primary ciliary dyskinesia, 40, 618300
Tags
Green Green List (high evidence)
DNAI1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Tags
Green Green List (high evidence)
DNAI2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444
Tags
Green Green List (high evidence)
GDF1
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Right atrial isomerism, 208530
Tags
Green Green List (high evidence)
LRRC56
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 39, 618254
  • Mucociliary Clearance and Laterality Defect
Tags
Green Green List (high evidence)
LRRC6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 19, 614935
Tags
Green Green List (high evidence)
MMP21
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 7, autosomal, 616749
Tags
Green Green List (high evidence)
NODAL
3 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 5, 270100
Tags
Green Green List (high evidence)
PIH1D3
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 36, X-linked, 300991
Tags
Green Green List (high evidence)
SPAG1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 28, 615505
Tags
Green Green List (high evidence)
ZIC3
2 reviews
2 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 1, X-linked, 306955
  • Congenital heart defects, nonsyndromic, 1, X-linked
Tags
Green Green List (high evidence)
ZMYND10
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 22, 615444
Tags
Amber Amber List (moderate evidence)
ACTC1
2 reviews
1 red
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
ACTG2
2 reviews
1 red
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
CCDC65
2 reviews
1 green
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
CFC1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Heterotaxy, visceral, 2, 605376
Tags
Amber Amber List (moderate evidence)
CRELD1
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217
Tags
Amber Amber List (moderate evidence)
DNAAF2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 10, 612518
Tags
Amber Amber List (moderate evidence)
DNAH1
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
DNAH8
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
DNAL1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 16, 614017
Tags
Amber Amber List (moderate evidence)
FANCB
2 reviews
1 red
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
LZTFL1
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
MYH6
2 reviews
1 red
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
NKX2-5
2 reviews
1 red
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
NPHP4
1 review
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
PKD1L1
2 reviews
Not set
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
TTC25
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Ciliary dyskinesia, primary, 35, 617092
Tags
Red Red List (low evidence)
ACVR2B
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751
Tags
Red Red List (low evidence)
CCNO
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
DNAJB13
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
DRC1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
GAS8
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
HYDIN
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
LETM1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
NME8
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
NSD2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
RSPH1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
RSPH3
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
RSPH4A
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
RSPH9
1 review
1 red
Not set
Sources
  • Expert Review Red
  • NHS GMS
Tags
No list No list
DNAH6
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Heterotaxy
  • male infertility
Tags
No list No list
FOXJ1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Hydrocephalus
  • chronic destructive airway disease
  • randomization of left/right body asymmetry
Tags
No list No list
MNS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Heterotaxy
  • male infertility
Tags

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